标题
A molecular genetics view on Mucopolysaccharidosis Type II
作者
关键词
Hunter syndrome, Iduronate-2-sulfatase, Lysosomal storage disease, Missense mutations, Genotype-phenotype correlation, Individualized medicine
出版物
MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH
Volume 788, Issue -, Pages 108392
出版商
Elsevier BV
发表日期
2021-08-08
DOI
10.1016/j.mrrev.2021.108392
参考文献
相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。- Novel Enzyme Replacement Therapies for Neuropathic Mucopolysaccharidoses
- (2020) Yuji Sato et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Pharmacological Chaperones: A Therapeutic Approach for Diseases Caused by Destabilizing Missense Mutations
- (2020) Ludovica Liguori et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment
- (2020) Francesca D’Avanzo et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease
- (2020) Jan Lukas et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification
- (2020) Lars Schlotawa et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Correction of Niemann-Pick type C1 trafficking and activity with the histone deacetylase inhibitor valproic acid
- (2020) Kanagaraj Subramanian et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Genetic analysis of 63 Chinese patients with mucopolysaccharidosis type II: Functional characterization of seven novel IDS variants
- (2019) Wen Zhang et al. CLINICA CHIMICA ACTA
- Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl
- (2019) A. N. Semyachkina et al. BMC Medical Genetics
- Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy
- (2019) Malte Lenders et al. JOURNAL OF MEDICAL GENETICS
- The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells
- (2019) Weihua Tian et al. Nature Communications
- Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
- (2019) Lorne A. Clarke et al. CLINICAL GENETICS
- Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments
- (2019) Kazuki Sawamoto et al. DRUGS
- A boy with mucopolysaccharidosis type II accompanied with a novel variation in heparan-N-sulfatase
- (2019) Yu-Jue Li et al. CHINESE MEDICAL JOURNAL
- Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism
- (2019) Emily Y. Tan et al. Frontiers in Pediatrics
- Identification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II)
- (2019) Hsiang-Yu Lin et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Diagnosis and follow-up of patients with Hunter syndrome in Spain
- (2018) Luis González-Gutiérrez-Solana et al. MEDICINE
- Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis
- (2018) Shaukat A. Khan et al. MOLECULAR GENETICS AND METABOLISM
- Chaperone effect of sulfated disaccharide from heparin on mutant iduronate-2-sulfatase in mucopolysaccharidosis type II
- (2018) Hiroo Hoshina et al. MOLECULAR GENETICS AND METABOLISM
- A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II
- (2018) Hiroyuki Sonoda et al. MOLECULAR THERAPY
- Lysosomal Targeting Enhancement by Conjugation of Glycopeptides Containing Mannose-6-phosphate Glycans Derived from Glyco-engineered Yeast
- (2018) Ji-Yeon Kang et al. Scientific Reports
- Evaluation of cerebrospinal fluid heparan sulfate as a biomarker of neuropathology in a murine model of mucopolysaccharidosis type II using high-sensitivity LC/MS/MS
- (2018) Noboru Tanaka et al. MOLECULAR GENETICS AND METABOLISM
- Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II
- (2018) Yosuke Osaki et al. Cell Death & Disease
- Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
- (2018) Melissa Wasserstein et al. MOLECULAR GENETICS AND METABOLISM
- Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial
- (2018) Torayuki Okuyama et al. MOLECULAR THERAPY
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review
- (2017) Linda A Bradley et al. GENETICS IN MEDICINE
- Quantitative Analysis of the Proteome Response to the Histone Deacetylase Inhibitor (HDACi) Vorinostat in Niemann-Pick Type C1 disease
- (2017) Kanagaraj Subramanian et al. MOLECULAR & CELLULAR PROTEOMICS
- Quantitative Proteome Analysis of Mouse Liver Lysosomes Provides Evidence for Mannose 6-phosphate-independent Targeting Mechanisms of Acid Hydrolases in Mucolipidosis II
- (2017) Sandra Markmann et al. MOLECULAR & CELLULAR PROTEOMICS
- Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms
- (2017) Elsa G. Shapiro et al. MOLECULAR GENETICS AND METABOLISM
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
- (2017) Mary Anne D. Chiong et al. Orphanet Journal of Rare Diseases
- Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum
- (2017) David F. Kronn et al. PEDIATRICS
- Insights into Hunter syndrome from the structure of iduronate-2-sulfatase
- (2017) Mykhaylo Demydchuk et al. Nature Communications
- Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)
- (2017) Molly Stapleton et al. Expert Opinion on Orphan Drugs
- Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises
- (2017) Fedah E. Mohamed et al. Frontiers in Pharmacology
- Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene
- (2017) Roger S. Holmes 3 Biotech
- Comparative studies of vertebrate iduronate 2-sulfatase (IDS) genes and proteins: evolution of A mammalian X-linked gene
- (2017) Roger S. Holmes 3 Biotech
- Cell cycle is disturbed in mucopolysaccharidosis type II fibroblasts, and can be improved by genistein
- (2016) Marta Moskot et al. GENE
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
- (2016) Derralynn A Hughes et al. JOURNAL OF MEDICAL GENETICS
- 724. Alternative Splicing of the Human Iduronate 2-Sulfatase Gene and Implications in Gene Therapy
- (2016) MOLECULAR THERAPY
- Taming molecular flexibility to tackle rare diseases
- (2015) Maria Vittoria Cubellis et al. BIOCHIMIE
- Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
- (2015) R. V. Velho et al. HUMAN MOLECULAR GENETICS
- Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease
- (2015) Jan Lukas et al. HUMAN MUTATION
- Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions?
- (2015) Shunji Tomatsu et al. MOLECULAR GENETICS AND METABOLISM
- Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts
- (2015) Maria Fuller et al. MOLECULAR GENETICS AND METABOLISM
- Characterization of a chemically modified plant cell culture expressed human α-Galactosidase-A enzyme for treatment of Fabry disease
- (2015) Tali Kizhner et al. MOLECULAR GENETICS AND METABOLISM
- Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
- (2015) Nathalie Guffon et al. Orphanet Journal of Rare Diseases
- Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
- (2014) Roberto Giugliani et al. GENETICS AND MOLECULAR BIOLOGY
- A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome
- (2014) Yo Kyung Chung et al. GLYCOCONJUGATE JOURNAL
- Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1
- (2014) Naoe Nakasone et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Role of Dietary Histone Deacetylases (HDACs) Inhibitors in Health and Disease
- (2014) Shalome Bassett et al. Nutrients
- Deletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation
- (2013) Lauren S Marshall et al. BMC Medical Genetics
- The multiple roles of histidine in protein interactions
- (2013) Si-Ming Liao et al. Chemistry Central Journal
- High-Throughput Assay of 9 Lysosomal Enzymes for Newborn Screening
- (2013) Z. Spacil et al. CLINICAL CHEMISTRY
- The potential of histone deacetylase inhibitors in Niemann - Pick type C disease
- (2013) Michael Maceyka et al. FEBS Journal
- Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study
- (2013) Encarna Guillén-Navarro et al. Orphanet Journal of Rare Diseases
- Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
- (2013) Tobias Böttcher et al. PLoS One
- Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
- (2013) Jan Lukas et al. PLoS Genetics
- Decreasing Activity and Altered Protein Processing of Human Iduronate-2-sulfatase Mutations Demonstrated by Expression in COS7 Cells
- (2012) Ratana Charoenwattanasatien et al. BIOCHEMICAL GENETICS
- Mucopolysaccharidosis type II in a female carrying a heterozygous stop mutation of the iduronate-2-sulfatase gene and showing a skewed X chromosome inactivation
- (2012) Raul E. Piña-Aguilar et al. European Journal of Medical Genetics
- Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls
- (2012) Barbara K. Burton et al. EUROPEAN JOURNAL OF PEDIATRICS
- Transport of the GlcNAc-1-phosphotransferase α/β-Subunit Precursor Protein to the Golgi Apparatus Requires a Combinatorial Sorting Motif
- (2012) Mine Franke et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease
- (2012) D. Marchesan et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
- (2012) Laura M. Pollard et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan
- (2012) Akemi Tanaka et al. MOLECULAR GENETICS AND METABOLISM
- A bacterial glycosidase enables mannose-6-phosphate modification and improved cellular uptake of yeast-produced recombinant human lysosomal enzymes
- (2012) Petra Tiels et al. NATURE BIOTECHNOLOGY
- Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expression-targeted isoflavone therapy (GET IT)
- (2011) Jolanta Marucha et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
- (2011) Kenneth J. Valenzano et al. ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES
- Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey
- (2011) Joseph Muenzer et al. GENETICS IN MEDICINE
- A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease
- (2011) Xiaoyang Wu et al. HUMAN MUTATION
- A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots
- (2011) Adviye A. Tolun et al. MOLECULAR GENETICS AND METABOLISM
- Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
- (2011) Maurizio Scarpa et al. Orphanet Journal of Rare Diseases
- Natural Progression of Neurological Disease in Mucopolysaccharidosis Type II
- (2011) J. B. Holt et al. PEDIATRICS
- Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease
- (2011) J. Lu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts
- (2011) N. H. Pipalia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases
- (2011) Maurizio Scarpa et al. EPMA Journal
- Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II
- (2010) A Friso et al. BRITISH JOURNAL OF PHARMACOLOGY
- A deletion involving exons 2-4 in the iduronate-2-sulfatase gene of a patient with intermediate Hunter syndrome
- (2010) Gloria Bonuccelli et al. CLINICAL GENETICS
- Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
- (2010) Roseline Froissart et al. CLINICAL GENETICS
- THE NATURAL HISTORY OF THE SEVERE FORM OF HUNTER'S SYNDROME: A STUDY BASED ON 52 CASES
- (2010) I. D. Young et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Discrimination of thermophilic and mesophilic proteins
- (2010) Todd J Taylor et al. BMC STRUCTURAL BIOLOGY
- Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability
- (2009) Raquel L. Lieberman et al. BIOCHEMISTRY
- Multidisciplinary Management of Hunter Syndrome
- (2009) J. Muenzer et al. PEDIATRICS
- Roles of β-turns in protein folding: From peptide models to protein engineering
- (2008) Anna Marie C. Marcelino et al. BIOPOLYMERS
- Genetic Analysis of Rwandan Patients With Cystic Fibrosis-Like Symptoms
- (2008) Léon Mutesa et al. CHEST
- Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients
- (2008) Ewa Piotrowska et al. CURRENT THERAPEUTIC RESEARCH-CLINICAL AND EXPERIMENTAL
- Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
- (2008) R. Martin et al. PEDIATRICS
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